Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	112398
Gene name	Egl-9 family hypoxia inducible factor 2
Gene symbol	EGLN2
Synonyms (NCBI Gene)	EIT-6EIT6HIF-PH1HIFPH1HPH-1HPH-3PHD1
Chromosome	19
Chromosome location	19q13.2
Summary	The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this p

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006784	hsa-miR-205-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	22859986
MIRT006784	hsa-miR-205-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	22859986
MIRT051206	hsa-miR-16-5p	CLASH	23622248
MIRT049430	hsa-miR-92a-3p	CLASH	23622248
MIRT708273	hsa-miR-4267	HITS-CLIP	19536157
MIRT708272	hsa-miR-5193	HITS-CLIP	19536157
MIRT708271	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708270	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT708269	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT708268	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT708267	hsa-miR-7977	HITS-CLIP	19536157
MIRT708266	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT708265	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT708273	hsa-miR-4267	HITS-CLIP	19536157
MIRT708272	hsa-miR-5193	HITS-CLIP	19536157
MIRT708271	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708270	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT708269	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT708268	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT708267	hsa-miR-7977	HITS-CLIP	19536157
MIRT708266	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT708265	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT954813	hsa-let-7a	CLIP-seq
MIRT954814	hsa-let-7b	CLIP-seq
MIRT954815	hsa-let-7c	CLIP-seq
MIRT954816	hsa-let-7d	CLIP-seq
MIRT954817	hsa-let-7e	CLIP-seq
MIRT954818	hsa-let-7f	CLIP-seq
MIRT954819	hsa-let-7g	CLIP-seq
MIRT954820	hsa-let-7i	CLIP-seq
MIRT954821	hsa-miR-1236	CLIP-seq
MIRT954822	hsa-miR-125a-3p	CLIP-seq
MIRT954823	hsa-miR-1301	CLIP-seq
MIRT954824	hsa-miR-198	CLIP-seq
MIRT954825	hsa-miR-202	CLIP-seq
MIRT954826	hsa-miR-2110	CLIP-seq
MIRT954827	hsa-miR-23a	CLIP-seq
MIRT954828	hsa-miR-23b	CLIP-seq
MIRT954829	hsa-miR-23c	CLIP-seq
MIRT954830	hsa-miR-3135b	CLIP-seq
MIRT954831	hsa-miR-3150a-3p	CLIP-seq
MIRT954832	hsa-miR-3175	CLIP-seq
MIRT954833	hsa-miR-3189-3p	CLIP-seq
MIRT954834	hsa-miR-339-5p	CLIP-seq
MIRT954835	hsa-miR-3652	CLIP-seq
MIRT954836	hsa-miR-3660	CLIP-seq
MIRT954837	hsa-miR-3921	CLIP-seq
MIRT954838	hsa-miR-3936	CLIP-seq
MIRT954839	hsa-miR-3944-5p	CLIP-seq
MIRT954840	hsa-miR-4279	CLIP-seq
MIRT954841	hsa-miR-4430	CLIP-seq
MIRT954842	hsa-miR-4458	CLIP-seq
MIRT954843	hsa-miR-4500	CLIP-seq
MIRT954844	hsa-miR-4504	CLIP-seq
MIRT954845	hsa-miR-4526	CLIP-seq
MIRT954846	hsa-miR-4645-5p	CLIP-seq
MIRT954847	hsa-miR-4649-3p	CLIP-seq
MIRT954848	hsa-miR-4653-5p	CLIP-seq
MIRT954849	hsa-miR-4660	CLIP-seq
MIRT954850	hsa-miR-4673	CLIP-seq
MIRT954851	hsa-miR-5047	CLIP-seq
MIRT954852	hsa-miR-545	CLIP-seq
MIRT954853	hsa-miR-549	CLIP-seq
MIRT954854	hsa-miR-576-3p	CLIP-seq
MIRT954855	hsa-miR-578	CLIP-seq
MIRT954856	hsa-miR-647	CLIP-seq
MIRT954857	hsa-miR-765	CLIP-seq
MIRT954858	hsa-miR-939	CLIP-seq
MIRT954859	hsa-miR-942	CLIP-seq
MIRT954860	hsa-miR-98	CLIP-seq
MIRT954861	hsa-miR-1913	CLIP-seq
MIRT954862	hsa-miR-324-3p	CLIP-seq
MIRT954863	hsa-miR-3664-5p	CLIP-seq
MIRT954864	hsa-miR-4519	CLIP-seq
MIRT954865	hsa-miR-455-3p	CLIP-seq
MIRT954866	hsa-miR-4690-3p	CLIP-seq
MIRT954867	hsa-miR-4714-5p	CLIP-seq
MIRT954868	hsa-miR-885-3p	CLIP-seq
MIRT1982801	hsa-miR-4729	CLIP-seq
MIRT1982802	hsa-miR-4747-5p	CLIP-seq
MIRT954813	hsa-let-7a	CLIP-seq
MIRT954814	hsa-let-7b	CLIP-seq
MIRT954815	hsa-let-7c	CLIP-seq
MIRT954816	hsa-let-7d	CLIP-seq
MIRT954817	hsa-let-7e	CLIP-seq
MIRT954818	hsa-let-7f	CLIP-seq
MIRT954819	hsa-let-7g	CLIP-seq
MIRT954820	hsa-let-7i	CLIP-seq
MIRT2217695	hsa-miR-1233	CLIP-seq
MIRT954821	hsa-miR-1236	CLIP-seq
MIRT954822	hsa-miR-125a-3p	CLIP-seq
MIRT2217696	hsa-miR-1275	CLIP-seq
MIRT2217697	hsa-miR-1286	CLIP-seq
MIRT954823	hsa-miR-1301	CLIP-seq
MIRT2217698	hsa-miR-1324	CLIP-seq
MIRT2217699	hsa-miR-18a	CLIP-seq
MIRT2217700	hsa-miR-18b	CLIP-seq
MIRT954861	hsa-miR-1913	CLIP-seq
MIRT2217701	hsa-miR-1915	CLIP-seq
MIRT2217702	hsa-miR-193a-3p	CLIP-seq
MIRT2217703	hsa-miR-193b	CLIP-seq
MIRT2217704	hsa-miR-1976	CLIP-seq
MIRT954825	hsa-miR-202	CLIP-seq
MIRT954826	hsa-miR-2110	CLIP-seq
MIRT954827	hsa-miR-23a	CLIP-seq
MIRT954828	hsa-miR-23b	CLIP-seq
MIRT954829	hsa-miR-23c	CLIP-seq
MIRT2217705	hsa-miR-3120-5p	CLIP-seq
MIRT954830	hsa-miR-3135b	CLIP-seq
MIRT2217706	hsa-miR-3140-5p	CLIP-seq
MIRT954831	hsa-miR-3150a-3p	CLIP-seq
MIRT954832	hsa-miR-3175	CLIP-seq
MIRT2217707	hsa-miR-3192	CLIP-seq
MIRT2217708	hsa-miR-3199	CLIP-seq
MIRT954862	hsa-miR-324-3p	CLIP-seq
MIRT2217709	hsa-miR-324-5p	CLIP-seq
MIRT2217710	hsa-miR-326	CLIP-seq
MIRT2217711	hsa-miR-330-5p	CLIP-seq
MIRT2217712	hsa-miR-346	CLIP-seq
MIRT2217713	hsa-miR-361-3p	CLIP-seq
MIRT954835	hsa-miR-3652	CLIP-seq
MIRT954836	hsa-miR-3660	CLIP-seq
MIRT954863	hsa-miR-3664-5p	CLIP-seq
MIRT2217714	hsa-miR-3675-5p	CLIP-seq
MIRT2217715	hsa-miR-3691-3p	CLIP-seq
MIRT954837	hsa-miR-3921	CLIP-seq
MIRT2217716	hsa-miR-3926	CLIP-seq
MIRT954838	hsa-miR-3936	CLIP-seq
MIRT2217717	hsa-miR-3943	CLIP-seq
MIRT954839	hsa-miR-3944-5p	CLIP-seq
MIRT954840	hsa-miR-4279	CLIP-seq
MIRT2217718	hsa-miR-4288	CLIP-seq
MIRT2217719	hsa-miR-4290	CLIP-seq
MIRT2217720	hsa-miR-4314	CLIP-seq
MIRT954841	hsa-miR-4430	CLIP-seq
MIRT2217721	hsa-miR-4436a	CLIP-seq
MIRT2217722	hsa-miR-4456	CLIP-seq
MIRT954842	hsa-miR-4458	CLIP-seq
MIRT954843	hsa-miR-4500	CLIP-seq
MIRT2217723	hsa-miR-4503	CLIP-seq
MIRT954844	hsa-miR-4504	CLIP-seq
MIRT2217724	hsa-miR-4514	CLIP-seq
MIRT2217725	hsa-miR-4515	CLIP-seq
MIRT954864	hsa-miR-4519	CLIP-seq
MIRT2217726	hsa-miR-451b	CLIP-seq
MIRT954845	hsa-miR-4526	CLIP-seq
MIRT2217727	hsa-miR-4533	CLIP-seq
MIRT954865	hsa-miR-455-3p	CLIP-seq
MIRT954846	hsa-miR-4645-5p	CLIP-seq
MIRT2217728	hsa-miR-4646-5p	CLIP-seq
MIRT954847	hsa-miR-4649-3p	CLIP-seq
MIRT954848	hsa-miR-4653-5p	CLIP-seq
MIRT2217729	hsa-miR-4659a-5p	CLIP-seq
MIRT2217730	hsa-miR-4659b-5p	CLIP-seq
MIRT954849	hsa-miR-4660	CLIP-seq
MIRT2217731	hsa-miR-4665-5p	CLIP-seq
MIRT954850	hsa-miR-4673	CLIP-seq
MIRT2217732	hsa-miR-4685-5p	CLIP-seq
MIRT2217733	hsa-miR-4687-5p	CLIP-seq
MIRT954866	hsa-miR-4690-3p	CLIP-seq
MIRT2217734	hsa-miR-4692	CLIP-seq
MIRT2217735	hsa-miR-4700-3p	CLIP-seq
MIRT954867	hsa-miR-4714-5p	CLIP-seq
MIRT2217736	hsa-miR-4722-3p	CLIP-seq
MIRT2217737	hsa-miR-4727-5p	CLIP-seq
MIRT1982801	hsa-miR-4729	CLIP-seq
MIRT2217738	hsa-miR-4733-3p	CLIP-seq
MIRT2217739	hsa-miR-4735-3p	CLIP-seq
MIRT1982802	hsa-miR-4747-5p	CLIP-seq
MIRT2217740	hsa-miR-4757-5p	CLIP-seq
MIRT2217741	hsa-miR-4763-5p	CLIP-seq
MIRT2217742	hsa-miR-4769-3p	CLIP-seq
MIRT2217743	hsa-miR-4793-5p	CLIP-seq
MIRT2217744	hsa-miR-486-3p	CLIP-seq
MIRT954851	hsa-miR-5047	CLIP-seq
MIRT2217745	hsa-miR-541	CLIP-seq
MIRT954852	hsa-miR-545	CLIP-seq
MIRT2217746	hsa-miR-548s	CLIP-seq
MIRT954853	hsa-miR-549	CLIP-seq
MIRT2217747	hsa-miR-550a	CLIP-seq
MIRT954855	hsa-miR-578	CLIP-seq
MIRT2217748	hsa-miR-617	CLIP-seq
MIRT2217749	hsa-miR-632	CLIP-seq
MIRT954856	hsa-miR-647	CLIP-seq
MIRT2217750	hsa-miR-654-5p	CLIP-seq
MIRT2217751	hsa-miR-711	CLIP-seq
MIRT2217752	hsa-miR-760	CLIP-seq
MIRT954857	hsa-miR-765	CLIP-seq
MIRT954868	hsa-miR-885-3p	CLIP-seq
MIRT954858	hsa-miR-939	CLIP-seq
MIRT2217753	hsa-miR-940	CLIP-seq
MIRT954859	hsa-miR-942	CLIP-seq
MIRT954860	hsa-miR-98	CLIP-seq
MIRT1982802	hsa-miR-4747-5p	CLIP-seq
MIRT954821	hsa-miR-1236	CLIP-seq
MIRT2521699	hsa-miR-133a	CLIP-seq
MIRT2521700	hsa-miR-133b	CLIP-seq
MIRT2217699	hsa-miR-18a	CLIP-seq
MIRT2217700	hsa-miR-18b	CLIP-seq
MIRT954861	hsa-miR-1913	CLIP-seq
MIRT954826	hsa-miR-2110	CLIP-seq
MIRT954827	hsa-miR-23a	CLIP-seq
MIRT954828	hsa-miR-23b	CLIP-seq
MIRT954829	hsa-miR-23c	CLIP-seq
MIRT954830	hsa-miR-3135b	CLIP-seq
MIRT954831	hsa-miR-3150a-3p	CLIP-seq
MIRT954832	hsa-miR-3175	CLIP-seq
MIRT954833	hsa-miR-3189-3p	CLIP-seq
MIRT954862	hsa-miR-324-3p	CLIP-seq
MIRT954835	hsa-miR-3652	CLIP-seq
MIRT954863	hsa-miR-3664-5p	CLIP-seq
MIRT2217714	hsa-miR-3675-5p	CLIP-seq
MIRT2521701	hsa-miR-3692	CLIP-seq
MIRT2217716	hsa-miR-3926	CLIP-seq
MIRT954838	hsa-miR-3936	CLIP-seq
MIRT2217717	hsa-miR-3943	CLIP-seq
MIRT2521702	hsa-miR-4268	CLIP-seq
MIRT954840	hsa-miR-4279	CLIP-seq
MIRT954841	hsa-miR-4430	CLIP-seq
MIRT2521703	hsa-miR-4448	CLIP-seq
MIRT954864	hsa-miR-4519	CLIP-seq
MIRT954865	hsa-miR-455-3p	CLIP-seq
MIRT954846	hsa-miR-4645-5p	CLIP-seq
MIRT2217729	hsa-miR-4659a-5p	CLIP-seq
MIRT2217730	hsa-miR-4659b-5p	CLIP-seq
MIRT954850	hsa-miR-4673	CLIP-seq
MIRT954866	hsa-miR-4690-3p	CLIP-seq
MIRT2217735	hsa-miR-4700-3p	CLIP-seq
MIRT954867	hsa-miR-4714-5p	CLIP-seq
MIRT2217736	hsa-miR-4722-3p	CLIP-seq
MIRT2217739	hsa-miR-4735-3p	CLIP-seq
MIRT2217741	hsa-miR-4763-5p	CLIP-seq
MIRT2217742	hsa-miR-4769-3p	CLIP-seq
MIRT2217744	hsa-miR-486-3p	CLIP-seq
MIRT954852	hsa-miR-545	CLIP-seq
MIRT2217746	hsa-miR-548s	CLIP-seq
MIRT954853	hsa-miR-549	CLIP-seq
MIRT2217747	hsa-miR-550a	CLIP-seq
MIRT2217748	hsa-miR-617	CLIP-seq
MIRT954857	hsa-miR-765	CLIP-seq
MIRT954868	hsa-miR-885-3p	CLIP-seq
MIRT954858	hsa-miR-939	CLIP-seq
MIRT954859	hsa-miR-942	CLIP-seq
MIRT954861	hsa-miR-1913	CLIP-seq
MIRT954862	hsa-miR-324-3p	CLIP-seq
MIRT954863	hsa-miR-3664-5p	CLIP-seq
MIRT2217714	hsa-miR-3675-5p	CLIP-seq
MIRT2521701	hsa-miR-3692	CLIP-seq
MIRT2217717	hsa-miR-3943	CLIP-seq
MIRT2521702	hsa-miR-4268	CLIP-seq
MIRT2521703	hsa-miR-4448	CLIP-seq
MIRT2217735	hsa-miR-4700-3p	CLIP-seq
MIRT954867	hsa-miR-4714-5p	CLIP-seq
MIRT2217744	hsa-miR-486-3p	CLIP-seq
MIRT954852	hsa-miR-545	CLIP-seq
MIRT954853	hsa-miR-549	CLIP-seq
MIRT2217748	hsa-miR-617	CLIP-seq

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Transcription factor	Regulation	Reference
ARNT	Unknown	15178343

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	11850811
GO:0001666	Process	Response to hypoxia	IDA	11595184
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16511565, 17353276, 22286099
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11850811, 12615973
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0008198	Function	Ferrous iron binding	IBA
GO:0008198	Function	Ferrous iron binding	IDA	28594552
GO:0008198	Function	Ferrous iron binding	NAS	12039559
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016706	Function	2-oxoglutarate-dependent dioxygenase activity	IDA	11595184, 22955912
GO:0018401	Process	Peptidyl-proline hydroxylation to 4-hydroxy-L-proline	IDA	12039559
GO:0019826	Function	Oxygen sensor activity	IDA	11595184
GO:0030520	Process	Estrogen receptor signaling pathway	NAS	11850811
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IBA
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IDA	11598268, 12039559
GO:0031545	Function	Peptidyl-proline 4-dioxygenase activity	IEA
GO:0043523	Process	Regulation of neuron apoptotic process	IBA
GO:0043523	Process	Regulation of neuron apoptotic process	IMP	19587290
GO:0045454	Process	Cell redox homeostasis	IDA	11595184
GO:0045732	Process	Positive regulation of protein catabolic process	IDA	11595184
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA
GO:0071456	Process	Cellular response to hypoxia	IBA
GO:0160082	Function	Hypoxia-inducible factor-proline dioxygenase activity	IEA

MIM	HGNC	e!Ensembl
606424	14660	ENSG00000269858

Q96KS0

Protein name

Prolyl hydroxylase EGLN2 (EC 1.14.11.-) (Egl nine homolog 2) (EC 1.14.11.29) (Estrogen-induced tag 6) (EIT-6) (HPH-3) (Hypoxia-inducible factor prolyl hydroxylase 1) (HIF-PH1) (HIF-prolyl hydroxylase 1) (HPH-1) (Prolyl hydroxylase domain-containing protei

Protein function

Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as ATF4, IKBKB, CEP192 and HIF1A (PubMed:11595184, PubMed:12039559, PubMed:15925519, PubMed:16509823, PubMed:17114296, PubMed:23932902). Target proteins

PDB

5V1B

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13640	2OG-FeII_Oxy_3	282 → 375	2OG-Fe(II) oxygenase superfamily	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult and fetal heart, brain, liver, lung, skeletal muscle, and kidney. Also expressed in testis and placenta. Highest levels in adult brain, placenta, lung, kidney, and testis. Expressed in hormone responsive tissues, inc

Sequence

MDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLPCPLLPSYHCPGVPSEASAG
SGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTKGCQRLAAQGARPEAPKRK
WAEDGGDAPSPSKRPWARQENQEAEREGGMSCSCSSGSGEASAGLMEEALPSAPERLALD
YIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGRLRDGQLVSQRAIPPRSIRGDQI
AWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVINGRTKAMVACYPGNGLGYVRHVDN
PHGDGRCITCIYYLNQNWDVKVHGGLLQIFPEGRPVVANIEPLFDRLLIFWSDRRNPHEV
KPAYATRYAITVWYFDAKERAAAKDKYQLASGQKGVQVPVSQPPTPT

Sequence length

407

Interactions

View interactions

	KEGG		Reactome
	HIF-1 signaling pathway Pathways in cancer Renal cell carcinoma		Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EGLN2-related disorder	Likely benign	rs201777248	RCV003917187

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	30665327
Breast Neoplasms	Associate	21291529, 26492917, 29693343, 32558530
Carcinogenesis	Associate	24894671
Carcinoma Hepatocellular	Associate	17717605
Carcinoma Non Small Cell Lung	Associate	24894671, 30665327
Carcinoma Pancreatic Ductal	Associate	39647834
Cluster Headache	Associate	27659016
Colorectal Neoplasms	Associate	24195777, 28218358, 36976352
Glaucoma	Associate	36450729
Hereditary Breast and Ovarian Cancer Syndrome	Associate	26492917
Hereditary leiomyomatosis and renal cell cancer	Associate	14982841
Hypoxia	Stimulate	14984367
Hypoxia	Associate	17114296, 21297970, 24045616, 26492917, 29534684
Hypoxia Brain	Associate	24644426, 24894671, 26492917
Intellectual Disability	Associate	36495919
Lung Diseases	Associate	24498427
Lung Neoplasms	Associate	24045616, 30665327
Lymphoma Mantle Cell	Associate	31517438
Neoplasms	Associate	20973793, 21291529, 21887331, 24195777, 24894671, 27263528, 28218358, 30948450, 32458625, 36976352
Oncocytoma renal	Associate	18773095
Osteoporosis	Associate	36771407
Paraganglioma	Associate	27659016
Pheochromocytoma	Associate	28336782
Polycythemia	Associate	27651169
Polyendocrinopathies Autoimmune	Associate	15649886
Pre Eclampsia	Associate	24644426
Prostatic Neoplasms	Associate	32458625
Pulmonary Disease Chronic Obstructive	Associate	23936167, 24045616, 24498427, 25609945, 29092026
Stomach Neoplasms	Associate	24517638
Tobacco Use Disorder	Associate	24045616

EGLN2 (egl-9 family hypoxia inducible factor 2)